ID   QBRIi007-A
AC   CVCL_YR07
SY   GLUT2 Mut-int iPSCs
DR   BioSamples; SAMEA6597985
DR   hPSCreg; QBRIi007-A
DR   SKIP; SKIP005881
DR   Wikidata; Q98128757
RX   PubMed=32146263;
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Sequence variation: Mutation; HGNC; 11006; SLC2A2; Simple; c.613-7T>G (IVS5-7T>G); ClinVar=VCV001339449; Zygosity=Homozygous (PubMed=32146263).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168998; Glycogen storage disease type XI
DI   ORDO; Orphanet_2088; Fanconi-Bickel syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4NT ! QBRIi007-B
OI   CVCL_A4NU ! QBRIi007-C
SX   Female
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32146263; DOI=10.1016/j.scr.2020.101736;
RA   Elsayed A.K., Aghadi M., Al-Khawaga S., Hussain K., Abdelalim E.M.;
RT   "Derivation of a human induced pluripotent stem cell line (QBRIi007-A)
RT   from a patient carrying a homozygous intronic mutation (c.613-7T>G) in
RT   the SLC2A2 gene.";
RL   Stem Cell Res. 44:101736-101736(2020).
//